Varaico: Literature-Extracted Genetic Variants

Gene:VHL
Variant:p.Y156*
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VHL

NM_000551.4:p.Y156*

Associated Papers

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

Identification of novel candidate predisposing genes in familial nonmedullary thyroid carcinoma implicating DNA damage repair pathways.

Pires C et al.

International Journal of Cancer, 2025

Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.

Chen JL et al.

Annual Review of Genomics and Human Genetics, 2022

36044908 (PubMed )
Supplement: gg23-giannikou_suptable1.xlsx › VHL

Complementary Role of Circulating Tumor DNA Assessment and Tissue Genomic Profiling in Metastatic Renal Cell Carcinoma.

Zengin ZB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

34130999 (PubMed )
Supplement: 10780432ccr210572-sup-260633_2_supp_7138642_qtl5pw.xlsx › Supplementary_Table_1

Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Dietz S et al.

Oncotarget, 2017

29088767 (PubMed )
Supplement: oncotarget-08-74049-s002.xlsx › Patient_3_-_Baseline

Determination of the consequences of VHL mutations on VHL transcripts in renal cell carcinoma.

Taylor C et al.

International Journal of Oncology, 2012

Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma.

Young AC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2009

Absence of VHL gene alteration and high VEGF expression are associated with tumour aggressiveness and poor survival of renal-cell carcinoma.

Patard JJ et al.

British Journal of Cancer, 2009

19755989 (PubMed )
Supplement: 6605298x1.xls › DATA_VHL_

Coexpression of erythropoietin and erythropoietin receptor in von Hippel-Lindau disease-associated renal cysts and renal cell carcinoma.

Lee YS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2005

Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions.

Gallou C et al.

Human Mutation, 2004

[Von Hippel-Lindau disease: a hereditary disease that impacts multiple tissues].

Richard S et al.

Presse Medicale (paris, France : 1983), 1998

Genotype-phenotype correlations in von Hippel-Lindau disease.

Neumann HP et al.

Journal of Internal Medicine, 1998

Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma.

Olschwang S et al.

Human Mutation, 1998

Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors.

Prowse AH et al.

American Journal of Human Genetics, 1997

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."